Breast cancer in a case of Shwachman Diamond syndrome |
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| Authors: | Singh Sharon A Vlachos Adrianna Morgenstern Nora J Ouansafi Ihsane Ip Wan Rommens Johanna M Durie Peter Shimamura Akiko Lipton Jeffrey M |
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| Affiliation: | Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, New York; The Feinstein Institute for Medical Research, Manhasset, New York; Hofstra North Shore-LIJ School of Medicine, Hempstead, New York. ssingh1@nshs.edu. |
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| Abstract: | Shwachman Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by neutropenia, exocrine pancreatic dysfunction, and cancer predisposition. Patients are at risk for myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) but, unlike other IBMFS, there have been no reported cases of solid tumors. We report a novel case of a solid tumor in a patient with SDS and biallelic mutations in the Shwachman Bodian Diamond Syndrome gene (SBDS). Whether the development of breast cancer in this patient is due to SDS or an isolated case due to unknown factors requires further study. Pediatr Blood Cancer 2012; 59: 945–946. © 2011 Wiley Periodicals, Inc. |
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| Keywords: | breast cancer cancer predisposition inherited bone marrow failure syndromes neutropenia Shwachman Diamond syndrome |
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